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Molecular autopsy

Gene: TMEM199

Red List (low evidence)

TMEM199 (transmembrane protein 199)
EnsemblGeneIds (GRCh38): ENSG00000244045
EnsemblGeneIds (GRCh37): ENSG00000244045
OMIM: 616815, Gene2Phenotype
TMEM199 is in 3 panels

1 review

Eleanor Williams (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for TMEM199 is VMA12.
Created: 12 Mar 2025, 2:45 p.m. | Last Modified: 12 Mar 2025, 2:45 p.m.
Panel Version: 0.116

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type IIp 616829
Tags
new-gene-name
OMIM
616815
Clinvar variants
Variants in TMEM199
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2025, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag new-gene-name tag was added to gene: TMEM199.

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type IIp 616829 for gene: TMEM199

20 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TMEM199 was added gene: TMEM199 was added to Molecular autopsy. Sources: Expert Review Red Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM199 were set to 26833330 Phenotypes for gene: TMEM199 were set to Congenital disorder of glycosylation, type IIp 616829